胎儿脑灰质异位合并FLNA基因突变病例报告

报告1例产前超声联合胎儿颅脑磁共振成像（magnetic resonance imaging,MRI）诊断胎儿脑灰质异位合并细丝蛋白A（filamin A,FLNA）基因突变的病例。患者超声检测结果显示侧脑室外壁凹凸不平,颅后窝池宽,透明隔间腔略窄,小脑延髓池轻度增宽。MRI诊断结果为胎儿脑灰质异位合并大枕大池。羊水穿刺获得脱落细胞,采用全外显子测序和基因拷贝数变异（copy number variations,CNV）分析,显示与脑灰质异位疾病相关的FLNA基因外显子出现缺失,其为可能导致脑灰质异位的致病基因。因此,超声结合胎儿颅脑MRI能有效提高脑灰质异位的诊断率,其中染色体检查可筛查出部分致病原因,并对下次妊娠提供帮助。该病例可丰富临床医生对胎儿大脑灰质异位的产前超声检查、合并畸形、临床表现等的认识。     

中孕期胎儿染色体异常高危孕妇羊水细胞胎儿染色体核型及介入性产前诊断指征的大样本分析

目的探讨中孕期胎儿染色体异常(FCA)高危孕妇羊水细胞胎儿染色体核型(FK)及其介入性产前诊断(IPD)指征。方法选择2014—2018年,在四川大学华西第二医院产前诊断中心进行羊膜腔穿刺术羊水细胞FK检测的63581例FCA高危孕妇(孕龄为19~27+6孕周)为研究对象。回顾性分析孕妇不同IPD指征及其胎儿染色体核型异常(FKA)检测结果。本研究遵循的程序符合四川大学华西第二医院伦理委员会所制定的伦理学标准,并通过该伦理委员会批准[审批文号:医学科研2019伦审批第(077)号]。结果①本组63581例中孕期孕妇的FKA检出率为3.13%(1989/63581)。这63581例孕妇的IPD指征分别为高龄(预产期年龄≥35岁)(25648例)、血清学筛查高风险(29009例)、无创产前筛查(NIPT)高风险(333例)、夫妇一方为染色体异常携带者(603例)、超声筛查发现胎儿结构异常及超声软指标异常(2647例)、异常儿生育史(1546例)、于外院进行羊水细胞FK分析结果异常者(7例)、孕妇智力低下及合并智力低下家族史(149例)、孕妇早孕期有害物质接触史(1400例)、其他(2239例),FKA检出率分别为3.26%(836/25648)、2.04%(593/29009)、65.17%(217/333)、34.33%(207/603)、3.51%(93/2647)、1.68%(26/1546)、85.71%(6/7)、4.03%(6/149)、0.14%(2/1400)、0.13%(3/2239)。②351例孕妇的IPD指征为超声筛查发现胎儿结构异常中,IPD指征为胎儿淋巴水囊瘤、皮肤水肿的FKA检出率最高,为26.09%(6/23)。2296例孕妇的IPD指征为胎儿超声软指标异常中,IPD指征为胎儿颈项透明层(NT)值≥2.5 mm的FKA检出率最高,为7.74%(66/853)。结论孕妇高龄、血清学筛查高风险、NIPT高风险、夫妇一方为染色体异常携带者、超声筛查发现胎儿结构异常及超声软指标异常等,均为中孕期孕妇FCA的IPD指征,孕妇IPD指征类型不同,FCA风险不同。羊膜腔穿刺术羊水细胞FK检测,可预测有IPD指征孕妇的妊娠结局,为降低FKA出生率提供参考。     

Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve families

Congenital diaphragmatic hernia is generally recognized as a sporadic malformation with little or no risk of recurrence. A family with three affected individuals in two generations is presented. In addition, new prenatal diagnostic techniques including ultrasonography and amniography are discussed. A comparison of associated physical characteristics in isolated versus twelve familial cases of diaphragmatic hernia is presented. In the familial group, there was a higher incidence of affected males (M:F ratio = 2.1 versus 0.67), a higher incidence of bilateral defects (20% versus 3%) and a lower incidence of additional life-threatening malforamtions 3.6% versus 47%). Analysis of available pedigree data favors multifactorial inheritance with a high male: female sex ratio as the most probable mode of transmission.     

Effect of prenatal tetrandrine therapy on pulmonary vascular structur al remodeling in the nitrofen-induced CDH rat model

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Daily,limited access to methamphetamine self-administration during pregnancy leads to increased methamphetamine sensitivity in adult offspring

Methamphetamine use by women, even throughout pregnancy, is common. But there is limited knowledge about the effects in prenatally methamphetamine-exposed children. This study investigated how prenatal methamphetamine exposure in rats, via maternal i.v. self-administration, affected the sensitivity of adult offspring to methamphetamine in comparison with controls. The offspring were generated from dams either self-administering methamphetamine daily under limited-access conditions prior to and throughout pregnancy, or their respective saline-yoked control dams. Spontaneous and methamphetamine-induced locomotor activity was assessed in male and female offspring of both exposure groups after a range of methamphetamine doses. In a separate group of offspring, acquisition of i.v. methamphetamine self-administration, responding under fixed and progressive ratio schedules of methamphetamine reinforcement, and reinstatement of extinguished drug-seeking behavior were assessed. Methamphetamine dose-dependently increased locomotor activity in both exposure groups. However, methamphetamine-exposed males showed significantly enhanced locomotor activity compared with controls at 1 mg/kg, and methamphetamine-exposed females showed significantly enhanced locomotor activity compared with controls at 3.2 mg/kg. Methamphetamine-exposed offspring of both sexes acquired methamphetamine self-administration faster and showed overall higher levels of methamphetamine-induced reinstatement compared with controls. Taken together, these results indicate that prenatal methamphetamine exposure to relatively low levels alters methamphetamine sensitivity in male and female adult offspring.     

Prospective Recruitment of Women Receiving Prenatal Care from Diverse Provider Arrangements: A Potential Strategy

Objectives: This study describes the use of a Medicaid managed care list to prospectively recruit into a research project pregnant women receiving care from a variety of providers. Method: A list of women enrolled in Medicaid managed care was used to recruit pregnant African-American and Latina women into a study of prenatal care satisfaction. Due to privacy concerns, the researchers were not able to directly access names from the list. Instead, a managed care contract agency sent recruitment letters to 1009 pregnant African-American and Latina Medicaid recipients. Response rates by ethnicity and several other key variables are calculated. The biases associated with this method of recruiting pregnant women from a variety of providers are discussed. Results: Thirty-five percent of the women contacted returned consent forms and agreed to have researchers approach them; the response rate for African-American women was 43% and for Latinas was 29% (p < 0.0001). Respondents were younger and later in their pregnancies than nonrespondents, but did not differ from them by zip code of residence. The women recruited into the study obtained prenatal care from a diverse group of providers. Conclusions: While the use of a prospectively generated list of pregnant Medicaid recipients to recruit low-income pregnant women into a research study may be associated with some selection bias, the potential cost savings, decreased effort, and diminished recall bias may make their use a feasible sampling alternative, particularly when the researcher desires to recruit women seeking care from a variety of provider arrangements.     

Receipt of Recommended Prenatal Interventions and Birth Weight Among African-American Women: Analysis of Data from the 1988 National Maternal and Infant Health Survey

Objectives: While the importance of exploring and better measuring elements of prenatal care have been noted in the public health literature, the components and timing of such services have been poorly examined for the overall pregnant population and specifically for African-Americans, who traditionally have had higher rates of low birth weight and premature delivery. This study explores the association between patient receipt of selected recommended prenatal care interventions and infant birth weight in a nationally representative sample of African-American women, while controlling for the influence of low birth weight risk indicators. Method: This is a retrospective case-control analysis using survey data of women who delivered normal birth weight, moderate low birth weight, and very low birth weight newborns in 1988. A sample of 3905 African-American women who responded to the 1988 National Maternal and Infant Health Survey is examined based on maternal recall of receipt of six clinical screening procedures and seven health-promotion recommendations. Birth weight measures were obtained from linked 1988 birth certificate data. Results: The initial results indicated that women who do not receive all of the recommended health-promotion advice are more likely to deliver very low birth weight infants than women who receive all of the advice in the content of their prenatal care, after controlling for low birth weight risks (OR = 1.28; 95% CI = 1.01, 1.7). However, when breast-feeding advice is removed from the aggregation of health-promotion advice, the significant effect of advice on very low birth weight is negated. No other significant group variations in the receipt of clinical screening procedures or health-promotion advice for women who gave birth in the remaining birth weight categories are observed. Conclusions: Nationally recommended initial clinical screening procedures and health-promotion advice in prenatal care content do not appear to be associated with a reduction in low birth weight for African-American women. More research is needed to better assess the impact of other antenatal interventions, particularly those given to women with a higher prevalence of poor birth outcomes.